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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   usher syndrome type 1
  

Disease ID 616
Disease usher syndrome type 1
Definition
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Synonym
retinitis pigmentosa and congenital deafness
us1
ush1
usher syndrome type 1 (disorder)
usher syndrome, type i
Orphanet
OMIM
UMLS
C1568247
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4647  |  MYO7A  |  CLINVAR;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:56)
60509  |  AGBL5  |  3.138  |  DISEASES
11214  |  AKAP13  |  1.6  |  DISEASES
136371  |  ASB10  |  2.699  |  DISEASES
491  |  ATP2B2  |  2.096  |  DISEASES
53335  |  BCL11A  |  1.275  |  DISEASES
64919  |  BCL11B  |  2.62  |  DISEASES
64072  |  CDH23  |  7.045  |  DISEASES
92211  |  CDHR1  |  2.573  |  DISEASES
10519  |  CIB1  |  3.305  |  DISEASES
7401  |  CLRN1  |  4.77  |  DISEASES
23418  |  CRB1  |  1.2  |  DISEASES
9732  |  DOCK4  |  2.364  |  DISEASES
2035  |  EPB41  |  1.206  |  DISEASES
346007  |  EYS  |  1.891  |  DISEASES
8322  |  FZD4  |  1.337  |  DISEASES
2582  |  GALE  |  2.305  |  DISEASES
2706  |  GJB2  |  2.749  |  DISEASES
2821  |  GPI  |  2.28  |  DISEASES
2925  |  GRPR  |  1.033  |  DISEASES
2932  |  GSK3B  |  1.172  |  DISEASES
55733  |  HHAT  |  1.594  |  DISEASES
3376  |  IARS  |  1.665  |  DISEASES
3399  |  ID3  |  1.312  |  DISEASES
3614  |  IMPDH1  |  1.844  |  DISEASES
3714  |  JAG2  |  1.343  |  DISEASES
133746  |  JMY  |  3.012  |  DISEASES
25802  |  LMOD1  |  1.916  |  DISEASES
348801  |  LNP1  |  2.506  |  DISEASES
474354  |  LRRC18  |  3.518  |  DISEASES
9863  |  MAGI2  |  2.097  |  DISEASES
744  |  MPPED2  |  2.535  |  DISEASES
4647  |  MYO7A  |  7.103  |  DISEASES
11165  |  NUDT3  |  2.245  |  DISEASES
4976  |  OPA1  |  1.425  |  DISEASES
5021  |  OXTR  |  1.239  |  DISEASES
27328  |  PCDH11X  |  3  |  DISEASES
65217  |  PCDH15  |  7.225  |  DISEASES
9659  |  PDE4DIP  |  2.683  |  DISEASES
79955  |  PDZD7  |  2.696  |  DISEASES
11284  |  PNKP  |  2.327  |  DISEASES
5456  |  POU3F4  |  1.55  |  DISEASES
5457  |  POU4F1  |  1.577  |  DISEASES
5515  |  PPP2CA  |  1.567  |  DISEASES
5537  |  PPP6C  |  1.552  |  DISEASES
5962  |  RDX  |  1.136  |  DISEASES
51460  |  SFMBT1  |  2.37  |  DISEASES
9498  |  SLC4A8  |  2.444  |  DISEASES
6427  |  SRSF2  |  1.169  |  DISEASES
161497  |  STRC  |  2.363  |  DISEASES
129685  |  TAF8  |  2.192  |  DISEASES
51616  |  TAF9B  |  3.563  |  DISEASES
6975  |  TECTB  |  2.947  |  DISEASES
25893  |  TRIM58  |  2.926  |  DISEASES
11078  |  TRIOBP  |  2.736  |  DISEASES
124997  |  WDR81  |  4.896  |  DISEASES
29062  |  WDR91  |  5.386  |  DISEASES
Locus
Symbol | Locus(Total Locus:9)
MYO7A  |  11q13.5
USH1K  |  10p11.21-q21.1
CIB2  |  15q25.1
PCDH15  |  10q21.1
CDH23  |  10q22.1
USH1G  |  17q25.1
USH1H  |  15q22-q23
USH1C  |  11p15.1
USH1E  |  21q21
Disease ID 616
Disease usher syndrome type 1
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:22)
HP:0001263  |  Global developmental delay
HP:0000518  |  Cataract
HP:0000682  |  Abnormality of dental enamel
HP:0000572  |  Visual loss
HP:0000512  |  Abnormal electroretinogram
HP:0007360  |  Aplasia/Hypoplasia of the cerebellum
HP:0001251  |  Ataxia
HP:0008499  |  High-grade hypermetropia
HP:0012157  |  Subcortical cerebral atrophy
HP:0007730  |  Iris hypopigmentation
HP:0002120  |  Cerebral cortical atrophy
HP:0000407  |  Sensorineural hearing impairment
HP:0000739  |  Anxiety
HP:0000375  |  Abnormality of cochlea
HP:0001249  |  Intellectual disability
HP:0012377  |  Hemianopsia
HP:0001756  |  Vestibular hypofunction
HP:0000575  |  Scotoma
HP:0100753  |  Schizophrenia
HP:0000738  |  Hallucinations
HP:0000716  |  Depression
HP:0000662  |  Nyctalopia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
Disease ID 616
Disease usher syndrome type 1
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:96)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1052030156602264647MYO7Aumls:C1568247UNIPROTThe present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.0.3259717212005MYO7A1177142737TA,C
rs111033174NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156683CT
rs111033175NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208781AG
rs111033178NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190108GA
rs111033180NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177172850CT
rs111033181NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156022TA
rs111033182NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177202357CT
rs111033187NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156018-C
rs111033192NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177207370GA,T
rs111033198NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177211170CT
rs111033201NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177174825CA,T
rs111033202NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177192191C-
rs111033206NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162854GA
rs111033214NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189348GA
rs111033215NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177206108GA
rs111033219NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162179-GCA
rs111033232NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208459CTT-
rs111033233NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177181589GA,T
rs111033238NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156771C-
rs111033239NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189372C-
rs111033250NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208697GA
rs111033259NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177198597AGATCATGCA
rs111033276NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177203099-C
rs111033283NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156909GA
rs111033284NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156991GA
rs111033285NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177158426TG
rs111033286NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162146CT
rs111033290NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177175465GA
rs111033337NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177198493AC
rs111033347NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190710A-
rs111033388NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177214682-TGAGCAAACAGCGGGGCTCCA
rs111033389NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162989GA
rs111033390NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189384-CA
rs111033403NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156018CA,T
rs111033404NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177174915GA,C
rs111033415NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162118AG
rs111033426NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177142708GA
rs111033433NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177183109C-
rs111033448NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156685G-
rs111033482NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189373AC
rs111033486NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156900AG
rs111033510NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177174772-AG
rs121965079NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156069CA,T
rs121965085NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177174816CT
rs13988994497183564647MYO7Aumls:C1568247UNIPROTMutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.0.3259717211998MYO7A1177199771GA
rs199606180NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177206120CT
rs2893461089002364647MYO7Aumls:C1568247UNIPROTMyosin VIIA mutation screening in 189 Usher syndrome type 1 patients.0.3259717211996MYO7A1177156904GA
rs28934610NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156904GA
rs35689081NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177142783CA,T
rs368657015NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177205554TC
rs369125667NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177142767CT
rs369458838NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190773CT
rs376764423NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208472CT
rs377670513NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177211909CT
rs397516281NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177160179TC
rs397516283NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177160283GA
rs397516284NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177142827GA
rs397516285NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177147806GA
rs397516290NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177172788-CAGCCA
rs397516291NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177174783CT
rs397516294NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177175449C-
rs397516295NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177179044GT
rs397516301NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189412GA
rs397516303NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190085AAGGACCTTTG-
rs397516304NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190117-C
rs397516308NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177194494GA
rs397516310NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177197568TC
rs397516312NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156079GA,T
rs397516315NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177199787TA
rs397516316NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177204065AG
rs397516317NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177204141CT
rs397516320NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177205562-C
rs397516321NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177205598CT
rs397516322NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177205599GA
rs397516323NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177207350TC
rs397516324NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156776TC
rs397516326NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208777G-
rs397516330NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177213858AG
rs397516331NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177213919CA
rs397516332NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177214608GA,T
rs41298133NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156969CT
rs606231379NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177162854G-
rs727503329NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177190838GA
rs727504541NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177204213AC
rs730880367NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177211331-G
rs773844428NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177208720CT
rs781811444NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177155908CT
rs781988557NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177181548GA
rs782252317NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177142763GA
rs797044490NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177158400ATCC-
rs797044491NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177158404TA
rs797044510NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156092GA
rs797044511NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177160980AG
rs797044512NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177156958CT
rs797044513NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177189404TGCCCGGGA
rs797044518NA4647MYO7Aumls:C1568247CLINVARNA0.325971721NAMYO7A1177130635AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0000407Sensorineural hearing impairmentMP:0006330syndromic hearing impairmenthearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0007730Iris hypopigmentationMP:0005408hypopigmentationdilution of pigment in any or all tissues or a part of a tissue
HP:0007360Aplasia/Hypoplasia of the cerebellumMP:0012129failure of blastocyst formationinability to form a blastocyst from a solid ball of cells known as a morula
HP:0000682Abnormality of dental enamelMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0000572Visual lossMP:0011352proximal convoluted tubule brush border lossattenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes
Mapped by homologous gene(Total Items:20)
HP ID HP Name MP ID MP Name Annotation
HP:0000407Sensorineural hearing impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000739AnxietyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000572Visual lossMP:0020194abnormal glycosphingolipid levelany anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body
HP:0000575ScotomaMP:0014059abnormal photoreceptor connecting cilium morphologyany structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0001756Vestibular hypofunctionMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0000518CataractMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000512Abnormal electroretinogramMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002120Cerebral cortical atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000738HallucinationsMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000716DepressionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000662NyctalopiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0007360Aplasia/Hypoplasia of the cerebellumMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0007730Iris hypopigmentationMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0012377HemianopiaMP:0013405increased circulating lactate levelgreater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
HP:0000682Abnormality of dental enamelMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0008499High-grade hypermetropiaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0100753SchizophreniaMP:0013787photophobia abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e
Disease ID 616
Disease usher syndrome type 1
Case(Waiting for update.)